Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863225311
rs863225311
APC
7 0.827 0.120 5 112819347 splice region variant A/C;G snv 0.700 0
dbSNP: rs1064794163
rs1064794163
APC
2 1.000 0.120 5 112827106 splice acceptor variant A/C;G;T snv 0.700 1.000 3 2004 2017
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs863224537
rs863224537
APC
1 1.000 0.120 5 112827139 missense variant A/C;G;T snv 0.700 0
dbSNP: rs863225349
rs863225349
APC
2 1.000 0.120 5 112839531 missense variant A/G snv 0.700 1.000 20 1991 2017
dbSNP: rs2266780
rs2266780
FMO3
9 0.827 0.280 1 171114102 missense variant A/G snv 0.15 0.14 0.030 1.000 3 2004 2007
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.020 1.000 2 2005 2014
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 1994 1994
dbSNP: rs1182822563
rs1182822563
APC
2 0.925 0.200 5 112828939 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121918081
rs121918081
TTR
3 0.925 0.200 18 31595124 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1331131200
rs1331131200
APC
2 0.925 0.200 5 112827976 synonymous variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs150973053
rs150973053
APC
4 0.851 0.200 5 112767356 missense variant A/G snv 3.5E-04 2.7E-04 0.010 1.000 1 2008 2008
dbSNP: rs1805105
rs1805105
AXIN1
11 0.776 0.280 16 346264 synonymous variant A/G snv 0.61 0.69 0.010 1.000 1 2019 2019
dbSNP: rs1984112
rs1984112
CD36
8 0.807 0.280 7 80613604 intron variant A/G snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs3846716
rs3846716
APC
1 1.000 0.120 5 112723897 intron variant A/G snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs454886
rs454886
APC
10 0.763 0.280 5 112810420 intron variant A/G snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs55778204
rs55778204
MSH2
2 0.925 0.160 2 47470993 missense variant A/G snv 2.3E-04 7.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs746303115
rs746303115
TBP
3 0.925 0.200 6 170561827 missense variant A/G snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs751945983
rs751945983
APC
2 0.925 0.200 5 112821942 synonymous variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs770649674
rs770649674
APC
6 0.807 0.120 5 112827177 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs876658214
rs876658214
APC
2 1.000 0.120 5 112837551 splice acceptor variant A/G snv 0.700 0
dbSNP: rs587783035
rs587783035
APC
2 0.925 0.120 5 112834949 splice acceptor variant A/G;T snv 0.700 1.000 6 1997 2013
dbSNP: rs777848503
rs777848503
APC
1 1.000 0.120 5 112792444 splice acceptor variant A/G;T snv 0.700 1.000 3 2010 2015
dbSNP: rs753314927
rs753314927
APC
3 0.882 0.200 5 112838644 missense variant A/G;T snv 0.010 1.000 1 2008 2008